Apert and Pfeiffer type 2 syndromes are low-prevalence genetic anomalies produced by a mutation in genes that codify the receptors of the fibroblastic growth factor. They are characteristic in presenting coronal craniosynostosis and syndactyly. Clinically, they are differentiated by moderate to severe mental retardation, polydactyly, and poor prognosis, typical of the Pfeiffer-type 2 syndrome; while in Apert’s syndrome mental retardation is mild and occasional, there is no polydactyly and has a better prognosis. It is not easy to differentiate clinically these two syndromes. We report a case of Apert syndrome and a case of Pfeiffer-type 2 syndrome, each with typical clinical characteristics. Furthermore, a review on the physiopathology and the phenotypical characteristics of these two syndromes, is performed.

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